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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

机译：宪法副本变体解释和报告技术标准：美国医学遗传学和基因组学（ACMG）和临床基因组资源（Clingen）的联合共识建议

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Erin Rooney Riggs; Erica F. Andersen; Athena M. Cherry; Sibel Kantarci; Hutton Kearney; Ankita Patel; Gordana Raca; Deborah I. Ritter; Sarah T. South; Erik C. Thorland; Daniel Pineda-Alvarez; Swaroop Aradhya; Christa Lese Martin;
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1. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) [J] . Genetics in medicine . 2020,第2期

机译：宪法副本变体解释和报告技术标准：美国医学遗传学和基因组学（ACMG）和临床基因组资源（Clingen）的联合共识建议
2. Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC) [J] . Mikhail Fady M., Biegel Jadyn A., Cooley Linda D., Genetics in medicine . 2019,第9期

机译：肿瘤障碍杂交号异常的解释和报告技术实验室标准，肿瘤疾病杂合子的复制 - 中性丧失：美国医学遗传学和基因组学（ACMG）和癌症基因组学联盟（CGC）的联合共识推荐
3. Classifying and Reporting Acquired Copy Number Variants (CNVs) and Copy Neutral Loss of Heterozygosity (CN-LOH) in Neoplastic Disorders: Joint Recommendations From the American College of Medical Genetics and Genomics (ACMG), and the Cancer Genomics Consortium (CGC) [J] . Gordana Raca, Jaclyn Biegel, Linda Cooley, Cancer genetics . 2017,第期

机译：分类和报告获取的拷贝数变体（CNV）并复制肿瘤疾病中杂合子（CN-LOH）的中性丧失：来自美国医学遗传学和基因组学（ACMG）和癌症基因组学联盟（CGC）的联合建议
4. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [O] . Sue Richards, Nazneen Aziz, Sherri Bale, -1

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机译：错误：勘误：临床外肢体和基因组测序中的次要研究结果报告的建议，2016年更新（ACMG SF v2.0）：美国医学遗传学和基因组学学院的政策声明

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

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